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    PABIR3 PABIR family member 3 [ Homo sapiens (human) ]

    Gene ID: 159091, updated on 3-Apr-2024

    Summary

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    Official Symbol
    PABIR3provided by HGNC
    Official Full Name
    PABIR family member 3provided by HGNC
    Primary source
    HGNC:HGNC:25202
    See related
    Ensembl:ENSG00000156500 AllianceGenome:HGNC:25202
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM122C
    Summary
    Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 1.5), ovary (RPKM 1.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq26.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134796364..134864771)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133121428..133189846)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133930394..133998801)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene placenta enriched 1 Neighboring gene ribosomal protein S7 pseudogene 12 Neighboring gene RNA, U4 small nuclear 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21014 Neighboring gene PABIR family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133942169-133943125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21015 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133966100-133966314 Neighboring gene Sharpr-MPRA regulatory region 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21016 Neighboring gene motile sperm domain containing 1 Neighboring gene RNA, U6 small nuclear 616, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. Hasegawa Y, et al. PLoS Genet, 2015 Aug. PMID 26288249, Free PMC Article
    2. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein serine/threonine phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    PABIR family member 1
    Names
    family with sequence similarity 122C
    protein FAM122C

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016383.2 RefSeqGene

      Range
      15875..63470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170779.3 → NP_001164250.1  PABIR family member 1 isoform 1

      See identical proteins and their annotated locations for NP_001164250.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS55501.1
      UniProtKB/Swiss-Prot
      F5H036, Q6P4D5, Q8WVK9
      Related
      ENSP00000359820.4, ENST00000370784.8

    2. NM_001170780.3 → NP_001164251.1  PABIR family member 1 isoform 3

      See identical proteins and their annotated locations for NP_001164251.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' UTR, the 3' UTR, and the coding region, one of which results in frameshift. These differences also result in translation from an alternate start codon. This variant encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AK307219, AL691477, BC016784
      Consensus CDS
      CCDS55500.1
      UniProtKB/Swiss-Prot
      Q6P4D5

    3. NM_001170781.2 → NP_001164252.1  PABIR family member 1 isoform 4

      See identical proteins and their annotated locations for NP_001164252.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS87777.1
      UniProtKB/TrEMBL
      B3KQY3
      Related
      ENSP00000495200.1, ENST00000475361.1

    4. NM_001170782.2 → NP_001164253.1  PABIR family member 1 isoform 5

      See identical proteins and their annotated locations for NP_001164253.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL691477
      UniProtKB/TrEMBL
      Q6P187

    5. NM_001170783.2 → NP_001164254.1  PABIR family member 1 isoform 6

      See identical proteins and their annotated locations for NP_001164254.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS76028.1
      UniProtKB/TrEMBL
      A0A087WU98

    6. NM_001170784.2 → NP_001164255.1  PABIR family member 1 isoform 6

      See identical proteins and their annotated locations for NP_001164255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (6) has a distinct C-terminus and is shorter than isoform 1. Both variants 6 and 7 encode the same isoform (6).
      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS76028.1
      UniProtKB/TrEMBL
      A0A087WU98
      Related
      ENSP00000485120.1, ENST00000623326.4

    7. NM_001365743.2 → NP_001352672.1  PABIR family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS94669.1
      UniProtKB/TrEMBL
      A0A2R8Y4Q6
      Related
      ENSP00000493993.1, ENST00000645288.1

    8. NM_001365744.3 → NP_001352673.1  PABIR family member 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    9. NM_001365745.2 → NP_001352674.1  PABIR family member 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS94674.1
      UniProtKB/TrEMBL
      A0A2R8Y466
      Related
      ENSP00000493672.1, ENST00000646004.1

    10. NM_001365746.1 → NP_001352675.1  PABIR family member 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS87777.1
      UniProtKB/TrEMBL
      B3KQY3
      Related
      ENSP00000495775.1, ENST00000482240.5

    11. NM_001365747.2 → NP_001352676.1  PABIR family member 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS94671.1
      UniProtKB/TrEMBL
      A0A2R8Y7I3, A0A2R8YGQ0

    12. NM_001365748.2 → NP_001352677.1  PABIR family member 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS94673.1
      UniProtKB/TrEMBL
      A0A2R8Y5U9
      Related
      ENSP00000495073.1, ENST00000643150.1

    13. NM_001388440.1 → NP_001375369.1  PABIR family member 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS55501.1
      UniProtKB/Swiss-Prot
      F5H036, Q6P4D5, Q8WVK9

    14. NM_001388441.1 → NP_001375370.1  PABIR family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS55500.1

    15. NM_001388442.1 → NP_001375371.1  PABIR family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS55500.1

    16. NM_001388443.1 → NP_001375372.1  PABIR family member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS55500.1
      Related
      ENSP00000402477.2, ENST00000414371.6

    17. NM_001388444.1 → NP_001375373.1  PABIR family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS94669.1
      UniProtKB/TrEMBL
      A0A2R8Y4Q6

    18. NM_001388445.1 → NP_001375374.1  PABIR family member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL691477
      Consensus CDS
      CCDS94669.1
      UniProtKB/TrEMBL
      A0A2R8Y4Q6

    19. NM_001388446.1 → NP_001375375.1  PABIR family member 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    20. NM_001388447.1 → NP_001375376.1  PABIR family member 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS94672.1
      UniProtKB/TrEMBL
      A0A2R8Y7S4
      Related
      ENSP00000496338.1, ENST00000645433.2

    21. NM_001388448.1 → NP_001375377.1  PABIR family member 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    22. NM_001388449.1 → NP_001375378.1  PABIR family member 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    23. NM_138819.5 → NP_620174.1  PABIR family member 1 isoform 2

      See identical proteins and their annotated locations for NP_620174.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL691477, Z83826
      Consensus CDS
      CCDS14644.1
      UniProtKB/Swiss-Prot
      Q6P4D5
      Related
      ENSP00000359821.3, ENST00000370785.4

    RNA

    1. NR_158603.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    2. NR_158606.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK295485, BC063491, Z83826
      Related
      ENST00000642481.1

    3. NR_170982.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691477, Z83826

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      134796364..134864771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262382.2 → XP_005262439.1  PABIR family member 1 isoform X1

      See identical proteins and their annotated locations for XP_005262439.1

    2. XM_011531296.3 → XP_011529598.1  PABIR family member 1 isoform X3

    3. XM_047441878.1 → XP_047297834.1  PABIR family member 1 isoform X5

    4. XM_011531295.2 → XP_011529597.1  PABIR family member 1 isoform X2

    5. XM_024452343.2 → XP_024308111.1  PABIR family member 1 isoform X6

    6. XM_047441877.1 → XP_047297833.1  PABIR family member 1 isoform X4

    7. XM_005262384.5 → XP_005262441.1  PABIR family member 1 isoform X10

    8. XM_005262383.3 → XP_005262440.1  PABIR family member 1 isoform X7

    9. XM_005262386.4 → XP_005262443.1  PABIR family member 1 isoform X12

    10. XM_017029308.2 → XP_016884797.1  PABIR family member 1 isoform X9

    11. XM_047441879.1 → XP_047297835.1  PABIR family member 1 isoform X8

      UniProtKB/TrEMBL
      A0A2R8YFJ9
      Related
      ENSP00000496521.1, ENST00000463842.2

    12. XM_047441880.1 → XP_047297836.1  PABIR family member 1 isoform X13

    13. XM_047441881.1 → XP_047297837.1  PABIR family member 1 isoform X14

      UniProtKB/TrEMBL
      A0A2R8Y7I3
      Related
      ENSP00000496039.1, ENST00000644752.1

    14. XM_011531302.3 → XP_011529604.1  PABIR family member 1 isoform X11

      See identical proteins and their annotated locations for XP_011529604.1

      UniProtKB/TrEMBL
      B4DI96

    15. XM_011531299.2 → XP_011529601.1  PABIR family member 1 isoform X11

      See identical proteins and their annotated locations for XP_011529601.1

      UniProtKB/TrEMBL
      B4DI96

    16. XM_011531301.3 → XP_011529603.1  PABIR family member 1 isoform X11

      See identical proteins and their annotated locations for XP_011529603.1

      UniProtKB/TrEMBL
      B4DI96

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133121428..133189846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326574.1 → XP_054182549.1  PABIR family member 1 isoform X1

    2. XM_054326578.1 → XP_054182553.1  PABIR family member 1 isoform X3

    3. XM_054326580.1 → XP_054182555.1  PABIR family member 1 isoform X5

    4. XM_054326577.1 → XP_054182552.1  PABIR family member 1 isoform X2

    5. XM_054326581.1 → XP_054182556.1  PABIR family member 1 isoform X6

    6. XM_054326579.1 → XP_054182554.1  PABIR family member 1 isoform X4

    7. XM_054326585.1 → XP_054182560.1  PABIR family member 1 isoform X10

    8. XM_054326582.1 → XP_054182557.1  PABIR family member 1 isoform X7

    9. XM_054326589.1 → XP_054182564.1  PABIR family member 1 isoform X12

    10. XM_054326584.1 → XP_054182559.1  PABIR family member 1 isoform X9

    11. XM_054326583.1 → XP_054182558.1  PABIR family member 1 isoform X8

      UniProtKB/TrEMBL
      A0A2R8YFJ9

    12. XM_054326590.1 → XP_054182565.1  PABIR family member 1 isoform X13

    13. XM_054326576.1 → XP_054182551.1  PABIR family member 1 isoform X1

    14. XM_054326575.1 → XP_054182550.1  PABIR family member 1 isoform X1

    15. XM_054326591.1 → XP_054182566.1  PABIR family member 1 isoform X14

      UniProtKB/TrEMBL
      A0A2R8Y7I3

    16. XM_054326588.1 → XP_054182563.1  PABIR family member 1 isoform X11

      UniProtKB/TrEMBL
      B4DI96

    17. XM_054326586.1 → XP_054182561.1  PABIR family member 1 isoform X11

      UniProtKB/TrEMBL
      B4DI96

    18. XM_054326587.1 → XP_054182562.1  PABIR family member 1 isoform X11

      UniProtKB/TrEMBL
      B4DI96
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P4D5.1 GenPept UniProtKB/Swiss-Prot:Q6P4D5

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